OBJECTIVE:SCN1A variants are the primary genetic cause of Dravet syndrome (DS), a severe developmental and epileptic encephalopathy characterized by early-onset prolonged seizures and progressive neurodevelopmental impairment. Early molecular diagnosis may influence treatment decisions and clinical outcomes. To characterize the molecular spectrum of SCN1A variants and describe the associated clinical and therapeutic features in children with suspected DS. METHODS:This retrospective study included children evaluated between 2018 and 2020 with clinical suspicion of DS or febrile seizures with epilepsy who were referred for SCN1A genetic testing. Next-generation sequencing was used to detect sequence variants, complemented by multiplex ligation-dependent probe amplification for copy number analysis. A total of 60 patients were screened, and 18 patients carrying pathogenic or likely pathogenic SCN1A variants and fulfilling clinical criteria for DS were included. RESULTS:Eighteen patients were identified with heterozygous pathogenic or likely pathogenic SCN1A variants, including 6 novel variants. Segregation analysis demonstrated that all 15 tested patients had de novo variants. Seizure onset ranged from 2.5 to 8 months, predominantly before 6 months of age. Several patients were exposed to sodium channel-blocking agents prior to molecular confirmation, with seizure aggravation and subsequent treatment modification. All patients required multiple anti-seizure medications and showed varying degrees of neurodevelopmental impairment. CONCLUSION:SCN1A-confirmed DS is associated with substantial seizure burden and neurodevelopmental morbidity. Delayed molecular diagnosis may lead to inappropriate treatment exposure and seizure worsening. Early genetic testing in infants with early-onset seizures may improve treatment selection and clinical outcomes.
OBJECTIVE:Central precocious puberty (CPP) is considerably less common in boys than in girls, and its underlying causes are more heterogeneous. Although earlier reports emphasized a high frequency of central nervous system (CNS) lesions in affected boys, recent data suggest a rising proportion of idiopathic cases. METHODS:In this retrospective cross-sectional study, medical records of 46 boys diagnosed with CPP between 2015 and 2025 were reviewed. Clinical data included age at diagnosis, anthropometry, pubertal stage, bone age (BA), hormonal measurements, and brain magnetic resonance imaging (MRI) findings. Patients were categorized as idiopathic or neurogenic CPP according to MRI results. Group comparisons were performed using appropriate statistical tests, with P < .05 considered significant. RESULTS:The mean age at diagnosis was 8.17 ± 1.73 years, and nearly half of the patients were referred for non-pubertal concerns. Magnetic resonance imaging (MRI) was normal in 68% of cases, while 32% had neurogenic CPP. The most frequent lesions were hypoxic-ischemic encephalopathy sequelae (20%), partial empty sella (20%), hypothalamic hamartoma (13%), and Rathke's cleft cysts (13%). No significant differences were found between idiopathic and neurogenic groups regarding basal luteinising hormone (LH), peak LH, testosterone levels, BA advancement, or pubertal stage at presentation. CONCLUSION:In this cohort, idiopathic CPP constituted the majority of cases in boys, supporting recent epidemiological trends. Clinical and hormonal parameters did not reliably distinguish neurogenic from idiopathic CPP, underscoring the continued importance of cranial MRI in evaluating boys with CPP. Larger, multi center studies with long-term follow-up are needed to refine risk stratification and imaging indications in this population.
OBJECTIVE:Congenital heart disease (CHD) is the most common congenital anomaly world-wide, yet data from Rwanda remain limited. Understanding its clinical profile and outcomes is essential for improving pediatric cardiac care. This study aimed to describe the clinical characteristics, diagnostic patterns, management strategies, and outcomes of cCHD among children under 5 years of age at a tertiary hospital in Kigali, Rwanda, and to compare these parameters across different CHD subtypes. METHODS:A retrospective hospital-based cross-sectional study was conducted at the University Teaching Hospital of Kigali (CHUK), Rwanda, from June 2022 to December 2023. Medical records of children under 5 years with echocardiographically confirmed CHD were reviewed. Demographic, clinical, management, and outcome data were analyzed using descriptive statistics and comparative tests, with statistical significance set at P < .005. RESULTS:Among 361 children with CHD, the mean age was 33.3 ± 20.8 months, and 51.8% were female. Acyanotic CHD predominated (83.7%), with ventricular septal defect (VSD) (35.1%) and patent ductus arteriosus (PDA) (29.8%) most common; Tetralogy of Fallot (TOF) was most frequent among cyanotic lesions (76.3%). The most common clinical features were breathing difficulties (71.5%) and failure to thrive (53.5%). Transthoracic echocardiography was the primary diagnostic tool, preceded by cardiac ultrasound in 66.2%. Medical therapy was the mainstay (furosemide 76.5%), with cardiac interventions performed in 34.6% (most commonly VSD closure and atrial septal defect (ASD) repair). Follow-up was the most frequent outcome (acya-notic 54%, cyanotic 71%), with low mortality (3.0% vs 3.4%). Children with cyanotic CHD wereolder and had higher anthropometric measurements, while stunting was more frequent in acyanotic lesions (96% vs 78%, P < .001). Clinical features were not associated with mortality, and alldeaths occurred in children without comorbidities, suggesting an acute course of deterioration. CONCLUSION:Acyanotic CHDs were predominant among children under 5 in Rwanda, with late presentation and limited access to definitive interventions. Strengthening early screening, diagnostic capacity, and surgical services is crucial to improving outcomes. Further research on genetic and familial risk factors is warranted.
OBJECTIVE:Congenital adrenal hyperplasia (CAH) requires timely diagnosis to prevent life-threatening adrenal crises. This study aimed to evaluate the first-year results of the CAH screening program in a district with a high refugee density and to compare the screening process timelines between the local population and immigrants/refugees. METHODS:This retrospective cross-sectional study analyzed data from the National Newborn Screening Program in Sultanbeyli, İstanbul, between January 2022 and January 2023. Newborns were stratified into 2o groups: local population (Turkish citizens) and immigrants/refugees. Screening outcomes, sample collection times, transfer times, and referral results were compared. RESULTS:The study included 5934 newborns, of whom 14% (n=868) were immigrants/refugees. Analytical screening performance was comparable between groups, with similar rates of second-tier testing (1.76% vs. 1.8%) and recall (0.4%). However, a significant disparity was observed in the median age at sample collection, which was 12 days (range: 1-65) for immigrants/refugees compared to 6 days (range: 0-176) for the local population (P < .001). Being an immigrant was identified as an independent risk factor for delayed sampling, regardless of primary care registration status. Once samples were collected, transfer and approval times were identical for both groups. CONCLUSION:While the logistical infrastructure of the screening program functions efficiently for all infants, there is a critical delay in the initial access step for refugee newborns. This delay poses a risk for missed early diagnosis of salt-wasting CAH. Targeted interventions, including multilingual education at hospital discharge, are essential to ensure timely screening for this vulnerable population.
Objective: This study aimed to evaluate the clinical features, antimicrobial resistance, and temporal patterns of community-acquired Staphylococcus aureus infections among children in a tertiary hospital in Türkiye. Methods: Medical records of pediatric patients diagnosed between January 2022 and December 2024 were retrospectively reviewed. Demographic, clinical, and microbiological data were analyzed, and methicillin-resistant S. aureus (MRSA) and methicillin-susceptible (MSSA) isolates were compared to assess temporal variation and resistance profiles. Results: Twenty-six pediatric patients were included 17 (65.4%) MRSA and 9 (34.6%) MSSA. The median age was 1.6 years (min-max: 1 month-16 years), with 69.3% under 5 years. Fourteen (53.8%) were girls. Abscess was the most common presentation (53.8%), followed by blood-stream (26.9%) and urinary tract infections (19.2%). Compared with MSSA, MRSA cases had a similar median age (1.2 vs. 2.0 years; P=.892) and showed no association with chronic comorbidities (29.4% vs. 33.3%; P=1.000) or recent antibiotic use (47.1% vs. 44.4%; P=1.000). The MRSA was more frequent among abscess isolates (71.4%, 10/14); however, the MRSA proportion did not differ significantly by specimen type (P=.480) or study year (P=.261). MRSA isolates were highly susceptible to trimethoprim-sulfamethoxazole with low clindamycin resistance. Conclusion: The observed MRSA proportion and susceptibility profile underscores the importance of ongoing local surveillance and stewardship. Strengthening pediatric-focused infection control and optimizing empirical therapy, especially in outpatient soft tissue infections, are crucial.
Objective: To evaluate the impact of the 2023 national guideline revision, which increased the gestational age threshold for empirical antibiotic initiation from <34 to <35 weeks, on hospitalization and antibiotic exposure in infants born at 340/7-346/7 weeks. Materials and Methods: This single-center retrospective cohort study included all live-born infants at 340/7-346/7 weeks between April 2018 and September 2023. The same cohort was reassessed according to the 2018 and 2023 Turkish Neonatology Society’s national guidelines on the Diagnosis and Treatment of Neonatal Infections criteria. For each infant, neonatal intensive care unit (NICU) admission, empirical antibiotic use, and hospitalization duration were recalculated under both scenarios. Results: A total of 272 infants were included. Under the 2018 guideline, 68 infants (25.0%) required empirical antibiotics, whereas the 2023 guideline classified 197 infants (72.4%) as needing treatment, adding 129 newly eligible infants. Among these, 66 infants who had previously roomed-in required new NICU admission, increasing total admissions from 183 (67.3%) to 249 (91.5%). Median antibiotic duration increased from 0 days to 2 days, and median hospitalization increased from 5 to 6 days (both P < .001). None of the newly classified infants developed clinical or culture-proven early-onset neonatal sepsis (EONS). Conclusion: Raising the gestational age threshold to <35 weeks substantially increased empirical antibiotic use and NICU admissions without improving EONS detection. These findings highlight the need for more refined and clinically integrated risk-stratification strategies and underscore the broader implications of unnecessary antibiotic exposure, including increased NICU utilization, healthcare burden, and antimicrobial stewardship concerns.
OBJECTIVE:Iron-deficiency anemia (IDA) is common in young children in developing countries, where recurrent infections (RIs) are also endemic. It was evaluated whether RI is an independent determinant of IDA using inflammation-adjusted serum ferritin (ISF), rather than viewing IDA as purely nutritional. METHODS:A prospective case-control study of children aged 6-59 months was conducted. Iron-deficiency anemia (IDA) was defined by anemia and iron deficiency using ISF derived from the Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) approach; controls had normal hematology and ISF. Recurrent infection (RI) within the previous 12 months was ascertained from medical records. Multivariable regression estimated adjusted odds ratios (aORs) for IDA, controlling for nutritional and social covariates; model performance was assessed by discrimination, calibration, and comparative fit. RESULTS:Three hundred children were analyzed (100 with IDA, 200 controls). In multivariable analysis, RI remained independently associated with IDA (aOR=2.29), alongside delayed complementary feeding (aOR=7.12), non-maternal caregiving (aOR=21.02), and low-iron diet (aOR=2.69). A dose-response with infection breadth was observed: infections at ≥2 sites tripled the odds of IDA (P-trend= .007). In phenotype-specific models, recurrent respiratory and gastrointestinal infections were independently associated with IDA (aOR: 2.26 and 2.22, respectively). Adding RI slightly increased discrimination (AUC=0.902; ΔAUC=+0.008) but significantly improved model fit versus the model without RI (likelihood-ratio χ2(1) = 5.14; P=.023; DeLong P = .26). CONCLUSION:Recurrent infection (RI) was an independent, dose-related determinant of childhood IDA beyond inflammation and nutrition, supporting a dual nutrition-inflammation framework and the inclusion of infection control in anemia strategies.
UNLABELLED:The primary goal of extracorporeal membrane oxygenation (ECMO) is to provide time for the effective treatment of the underlying disease; it does not directly treat the disease itself but serves as a bridge to recovery or to definitive therapies such as heart or lung transplantation. This review article aims to examine the fundamental components and various cannulation strategies of ECMO in pediatric patients, as well as its indications, anticoagulation strategies, and potential complications.
Background: Hepatitis A virus (HAV) infection is generally self-limiting but may occasionally cause severe disease requiring hospitalization. As HAV epidemiology shifts in the Middle East with declining childhood seroprevalence and rising adult susceptibility, understanding age specific disease patterns is important. This study compared pediatric and adult patients hospitalized with HAV in northern Jordan. Methods: A retrospective cohort study was performed of 115 serologically confirmed HAV cases admitted to King Abdullah University Hospital (KAUH) from 2015-2024. Patients were categorized as pediatric (≤17 years) or adult (≥18 years). Demographics, clinical features, laboratory and imaging findings, and outcomes were compared. Results: Children accounted for 67.8% of admissions and more often lived in rural areas. Jaundice and ascites were more frequent among pediatric patients, whereas diarrhea, prolonged symptoms, and higher alanine aminotransferase (ALT) levels characterized adult cases. Gallstones were detected only in adults. Severe complications were uncommon; however, all 3 deaths occurred among pediatric patients and were associated with marked coagulopathy. Conclusion: Pediatric and adult HAV infections present with distinct clinical and biochemical patterns. While most cases are uncomplicated, severe pediatric outcomes, including mortality, highlight the need for strengthened prevention strategies, improved sanitation, and evaluation of routine HAV vaccination in Jordan.
UNLABELLED:Pediatric nephrotic syndrome (NS) is a complex renal disorder characterized by proteinuria, hypoalbuminemia, edema, hyperlipidemia, and risk of chronic kidney disease. Oxidative stress (OS) is increasingly recognized as a central mechanism driving glomerular and tubular injury, inflammation, and progression of kidney injury. The aim of this review was to summarize the evidence on the role of OS in the pathophysiology and clinical implications of NS. A narrative review was conducted using PubMed, Scopus, Web of Science, and Google Scholar (2000-2025), focusing on recent studies. Keywords included "nephrotic syndrome," "oxidative stress," "reactive oxygen species," and "antioxidant enzymes." Data were synthesized to identify key oxidative mechanisms, biomarkers, and clinical relevance. The NS is characterized by excessive reactive oxygen species production via NADPH oxidase, xanthine oxidase, and mitochondrial pathways, accompanied by impaired antioxidant defenses such as glutathione and superoxide dismutase. Elevated malondialdehyde and advanced oxidation protein products correlate with proteinuria, podocyte injury, and steroid resistance. Reduced antioxidants indicate diminished cellular defense and redox imbalance. The OS contributes to podocyte effacement, tubulointerstitial apoptosis, fibrosis, and progressive nephron loss. Monitoring OS biomarkers can improve assessment of disease activity, predict relapse or steroid resistance, and guide possible antioxidant interventions.
The evaluation of arginine vasopressin resistance (AVP-R) and arginine vasopressin deficiency (AVP-D), respectively, previously referred to as nephrogenic and central diabetes insipidus, often includes brain magnetic resonance imaging (MRI). Its purpose is to assess pituitary structural changes and identify the physiological T1 hyperintensity of the posterior pituitary, present in most individuals. This hyperintensity reflects vasopressin storage, which shortens the T1 relaxation time. Its absence supports a diagnosis of AVP-D over AVP-R. A 13-year-old boy was referred to endocrinology in his second year of life for polyuria and polydipsia. Brain MRI revealed normal pituitary morphology and a spontaneous T1 hyperintensity of the posterior pituitary. The AVP-R was confirmed by a hemizygous AVPR2 gene mutation. Treatment with hydrochlorothiazide, potassium supplementation, and dietary sodium restriction achieved good clinical control. During school age, progressive growth deceleration led to short stature and delayed puberty. At 13 years, repeated MRI showed a smaller pituitary gland and loss of the posterior pituitary T1 hyperintensity. Loss of posterior pituitary T1 hyperintensity is rare in AVP-R, and late disappearance has not been previously described in genetically confirmed cases. This case underscores the importance of integrating clinical, genetic, and imaging findings.
